Paget Disease Of Bone 3; Pdb3
Description
Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014).
Clinical Features
Top most frequent phenotypes and symptoms related to Paget Disease Of Bone 3; Pdb3
- Hearing impairment
- Neoplasm
- Pain
- Bone pain
- Osteolysis
- Sarcoma
- Elevated alkaline phosphatase
- Increased susceptibility to fractures
- Osteosarcoma
- Fractures of the long bones
And another 1 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Paget Disease Of Bone 3; Pdb3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
Amyotrophic Lateral Sclerosis Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
100 % |
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
7 %
Genes
100 % |
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
Movement Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
Dystonia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)
View the complete list with 150 more genes
Specificity
1 %
Genes
100 % |
You can get up to 49 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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